Canonical Allele Identifier: CA918963896

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs1329237292

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354066_108354069del , CM000673.2:g.108354066_108354069del	GRCh38
NC_000011.9:g.108224793_108224796del , CM000673.1:g.108224793_108224796del	GRCh37
NC_000011.8:g.107730003_107730006del	NCBI36
NG_009830.1:g.136235_136238del , LRG_135:g.136235_136238del
NG_054724.1:g.120771_120774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+186_8786+189del (ATM)	ENSP00000388058.2:n.8786+186_8786+189del
ENST00000713593.1:c.*8257+186_*8257+189del (ATM)	ENSP00000518889.1:n.*8257+186_*8257+189del
ENST00000278616.9:c.8786+186_8786+189del (ATM)	ENSP00000278616.4:n.8786+186_8786+189del
ENST00000638786.2:n.1484+186_1484+189del (ATM)
ENST00000682286.1:n.3543+186_3543+189del (ATM)
ENST00000682302.1:n.3204+186_3204+189del (ATM)
ENST00000683174.1:n.10270+186_10270+189del (ATM)
ENST00000683524.1:n.4010+186_4010+189del (ATM)
ENST00000684152.1:n.4202+186_4202+189del (ATM)
ENST00000684180.1:n.1260+186_1260+189del (ATM)
ENST00000684447.1:n.5279+186_5279+189del (ATM)
ENST00000527805.6:c.*3850+186_*3850+189del (ATM)	ENSP00000435747.2:n.*3850+186_*3850+189del
ENST00000675595.1:c.*3921+186_*3921+189del (ATM)	ENSP00000502563.1:n.*3921+186_*3921+189del
ENST00000675843.1:c.8786+186_8786+189del (ATM) MANE Select	ENSP00000501606.1:n.8786+186_8786+189del
ENST00000278616.8:c.8786+186_8786+189del (ATM)	ENSP00000278616.4:n.8786+186_8786+189del
ENST00000452508.6:c.8786+186_8786+189del (ATM)	ENSP00000388058.2:n.8786+186_8786+189del
ENST00000524755.5:c.227-18770_227-18767del (C11orf65)
ENST00000524792.5:n.5001+186_5001+189del (ATM)
ENST00000525178.5:n.274+186_274+189del (ATM)
ENST00000525729.5:c.640+31858_640+31861del (C11orf65)	ENSP00000433395.1:n.640+31858_640+31861del
ENST00000526725.1:n.272-13698_272-13695del (C11orf65)
ENST00000527181.1:n.125+186_125+189del (ATM)
ENST00000527531.5:c.*1196+853_*1196+856del (C11orf65)	ENSP00000431706.1:n.*1196+853_*1196+856del
ENST00000615746.4:c.*1196+853_*1196+856del (C11orf65)	ENSP00000483537.1:n.*1196+853_*1196+856del
NM_000051.3:c.8786+186_8786+189del , LRG_135t1:c.8786+186_8786+189del (ATM)	NP_000042.3:n.8786+186_8786+189del
XM_005271414.3:c.788-18770_788-18767del (C11orf65)	XP_005271471.1:n.788-18770_788-18767del
XM_005271415.3:c.732-18770_732-18767del (C11orf65)	XP_005271472.1:n.732-18770_732-18767del
XM_005271561.3:c.8786+186_8786+189del (ATM)	XP_005271618.2:n.8786+186_8786+189del
XM_005271562.3:c.8786+186_8786+189del (ATM)	XP_005271619.2:n.8786+186_8786+189del
XM_006718843.2:c.8786+186_8786+189del (ATM)	XP_006718906.1:n.8786+186_8786+189del
XM_006718845.1:c.4742+186_4742+189del (ATM)	XP_006718908.1:n.4742+186_4742+189del
XM_011542640.1:c.788-13698_788-13695del (C11orf65)	XP_011540942.1:n.788-13698_788-13695del
XM_011542642.1:c.732-4989_732-4986del (C11orf65)	XP_011540944.1:n.732-4989_732-4986del
XM_011542643.1:c.732-13698_732-13695del (C11orf65)	XP_011540945.1:n.732-13698_732-13695del
XM_011542840.1:c.8786+186_8786+189del (ATM)	XP_011541142.1:n.8786+186_8786+189del
XM_011542841.1:c.8786+186_8786+189del (ATM)	XP_011541143.1:n.8786+186_8786+189del
XM_011542842.1:c.8621+186_8621+189del (ATM)	XP_011541144.1:n.8621+186_8621+189del
XM_011542844.1:c.7742+186_7742+189del (ATM)	XP_011541146.1:n.7742+186_7742+189del
XM_011542845.1:c.7478+186_7478+189del (ATM)	XP_011541147.1:n.7478+186_7478+189del
XM_011542847.1:c.3857+186_3857+189del (ATM)	XP_011541149.1:n.3857+186_3857+189del
NM_001330368.1:c.640+31858_640+31861del (C11orf65)	NP_001317297.1:n.640+31858_640+31861del
NM_001351110.1:c.695-18770_695-18767del (C11orf65)	NP_001338039.1:n.695-18770_695-18767del
NM_001351834.1:c.8786+186_8786+189del (ATM)	NP_001338763.1:n.8786+186_8786+189del
NR_147053.2:n.2301+853_2301+856del (C11orf65)
XM_005271414.4:c.788-18770_788-18767del (C11orf65)	XP_005271471.1:n.788-18770_788-18767del
XM_005271415.4:c.732-18770_732-18767del (C11orf65)	XP_005271472.1:n.732-18770_732-18767del
XM_005271562.5:c.8786+186_8786+189del (ATM)	XP_005271619.2:n.8786+186_8786+189del
XM_006718843.4:c.8786+186_8786+189del (ATM)	XP_006718906.1:n.8786+186_8786+189del
XM_006718845.2:c.4742+186_4742+189del (ATM)	XP_006718908.1:n.4742+186_4742+189del
XM_011542640.2:c.788-13698_788-13695del (C11orf65)	XP_011540942.1:n.788-13698_788-13695del
XM_011542643.2:c.732-13698_732-13695del (C11orf65)	XP_011540945.1:n.732-13698_732-13695del
XM_011542840.3:c.8786+186_8786+189del (ATM)	XP_011541142.1:n.8786+186_8786+189del
XM_011542842.3:c.8621+186_8621+189del (ATM)	XP_011541144.1:n.8621+186_8621+189del
XM_011542844.3:c.7742+186_7742+189del (ATM)	XP_011541146.1:n.7742+186_7742+189del
XM_011542845.2:c.7478+186_7478+189del (ATM)	XP_011541147.1:n.7478+186_7478+189del
XM_017017247.1:c.904-13698_904-13695del (C11orf65)	XP_016872736.1:n.904-13698_904-13695del
XM_017017789.2:c.8786+186_8786+189del (ATM)	XP_016873278.1:n.8786+186_8786+189del
XM_017017790.2:c.8786+186_8786+189del (ATM)	XP_016873279.1:n.8786+186_8786+189del
NM_001330368.2:c.640+31858_640+31861del (C11orf65)	NP_001317297.1:n.640+31858_640+31861del
NM_001351110.2:c.695-18770_695-18767del (C11orf65)	NP_001338039.1:n.695-18770_695-18767del
NM_001351834.2:c.8786+186_8786+189del (ATM)	NP_001338763.1:n.8786+186_8786+189del
NM_000051.4:c.8786+186_8786+189del (ATM) MANE Select	NP_000042.3:n.8786+186_8786+189del
NR_147053.3:n.2299+853_2299+856del (C11orf65)